Incidental Mutation 'R6636:Nsl1'
ID 525431
Institutional Source Beutler Lab
Gene Symbol Nsl1
Ensembl Gene ENSMUSG00000062510
Gene Name NSL1, MIS12 kinetochore complex component
Synonyms LOC381318, 4833432M17Rik
MMRRC Submission 044757-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # R6636 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 190794710-190816755 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 190807324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 168 (T168A)
Ref Sequence ENSEMBL: ENSMUSP00000076220 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076952] [ENSMUST00000078259] [ENSMUST00000139340]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000076952
AA Change: T168A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000076220
Gene: ENSMUSG00000062510
AA Change: T168A

DomainStartEndE-ValueType
low complexity region 18 32 N/A INTRINSIC
Pfam:Mis14 67 170 1.6e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000078259
SMART Domains Protein: ENSMUSP00000077380
Gene: ENSMUSG00000062510

DomainStartEndE-ValueType
low complexity region 18 32 N/A INTRINSIC
Pfam:Mis14 82 197 2.9e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139340
SMART Domains Protein: ENSMUSP00000115289
Gene: ENSMUSG00000062510

DomainStartEndE-ValueType
low complexity region 18 32 N/A INTRINSIC
Pfam:Mis14 67 171 7e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192879
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 98% (41/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with two coiled-coil domains that localizes to kinetochores, which are chromosome-associated structures that attach to microtubules and mediate chromosome movements during cell division. The encoded protein is part of a conserved protein complex that includes two chromodomain-containing proteins and a component of the outer plate of the kinetochore. This protein complex is proposed to bridge centromeric heterochromatin with the outer kinetochore structure. Multiple transcript variants encoding different isoforms have been found for this gene. There is a pseudogene of the 3' UTR region of this gene on chromosome X. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 A G 15: 64,659,251 (GRCm39) V513A probably damaging Het
Adgrl4 G A 3: 151,223,410 (GRCm39) W621* probably null Het
Ap4m1 A G 5: 138,170,437 (GRCm39) probably benign Het
Atp6v1b2 T C 8: 69,554,026 (GRCm39) Y68H probably damaging Het
AY761185 T A 8: 21,434,556 (GRCm39) probably null Het
C3ar1 T C 6: 122,828,013 (GRCm39) D68G probably damaging Het
Cdh10 A T 15: 18,985,259 (GRCm39) I308F probably damaging Het
Coq8a A T 1: 180,006,552 (GRCm39) S112T probably benign Het
Dmgdh A T 13: 93,845,706 (GRCm39) E453D probably benign Het
Fryl C A 5: 73,290,655 (GRCm39) R83L probably benign Het
Gm4861 C T 3: 137,256,760 (GRCm39) probably null Het
Gnai1 T C 5: 18,478,472 (GRCm39) D231G probably damaging Het
Hfe C G 13: 23,890,778 (GRCm39) E120D possibly damaging Het
Hfe T C 13: 23,890,779 (GRCm39) E120G possibly damaging Het
Hgd A G 16: 37,435,736 (GRCm39) N149S possibly damaging Het
Kcnb1 T C 2: 166,947,774 (GRCm39) D358G probably damaging Het
Lama2 C A 10: 27,000,564 (GRCm39) V1653L probably benign Het
Lamc1 A T 1: 153,117,721 (GRCm39) I947N possibly damaging Het
Lamp3 A G 16: 19,519,983 (GRCm39) F67L probably benign Het
Ltbp2 T C 12: 84,922,612 (GRCm39) I132V probably benign Het
Muc4 C T 16: 32,575,255 (GRCm39) P1280L probably benign Het
Muc5ac T C 7: 141,372,342 (GRCm39) Y2659H possibly damaging Het
Nmbr T C 10: 14,645,978 (GRCm39) S168P probably benign Het
Or2g7 G A 17: 38,378,115 (GRCm39) D18N probably damaging Het
Or4a27 T C 2: 88,559,185 (GRCm39) I253V probably benign Het
Or5b113 T C 19: 13,342,589 (GRCm39) V199A probably benign Het
Or8s5 A G 15: 98,238,831 (GRCm39) F13S probably benign Het
Pde1c A C 6: 56,157,087 (GRCm39) V191G probably damaging Het
Proc T A 18: 32,256,813 (GRCm39) I285F probably benign Het
R3hdm1 GAA GAAA 1: 128,090,548 (GRCm39) probably null Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Homo
Spa17 A T 9: 37,523,270 (GRCm39) S6T probably benign Het
Spp1 T C 5: 104,588,396 (GRCm39) V267A possibly damaging Het
Stk17b A T 1: 53,800,247 (GRCm39) Y244N probably damaging Het
Tal1 A G 4: 114,925,789 (GRCm39) N286S probably damaging Het
Tgm7 T A 2: 120,931,571 (GRCm39) R197S probably damaging Het
Tmcc3 T A 10: 94,414,286 (GRCm39) V27E probably benign Het
Topaz1 A T 9: 122,578,851 (GRCm39) Q587L probably benign Het
Trim33 C T 3: 103,261,035 (GRCm39) A1061V probably damaging Het
Ttll1 C G 15: 83,384,147 (GRCm39) W160S probably damaging Het
Utp25 A T 1: 192,796,075 (GRCm39) F197I probably damaging Het
Wnt7a A G 6: 91,371,540 (GRCm39) Y141H probably benign Het
Other mutations in Nsl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02546:Nsl1 APN 1 190,803,398 (GRCm39) missense probably benign 0.06
IGL03398:Nsl1 APN 1 190,814,361 (GRCm39) splice site probably benign
IGL02988:Nsl1 UTSW 1 190,795,300 (GRCm39) nonsense probably null
R0054:Nsl1 UTSW 1 190,814,381 (GRCm39) missense probably damaging 1.00
R0054:Nsl1 UTSW 1 190,814,381 (GRCm39) missense probably damaging 1.00
R0284:Nsl1 UTSW 1 190,797,427 (GRCm39) missense probably damaging 1.00
R0482:Nsl1 UTSW 1 190,795,237 (GRCm39) start codon destroyed probably null 0.83
R1776:Nsl1 UTSW 1 190,795,385 (GRCm39) missense probably benign
R5187:Nsl1 UTSW 1 190,807,387 (GRCm39) missense probably benign 0.01
R5470:Nsl1 UTSW 1 190,812,737 (GRCm39) missense probably benign 0.24
R5838:Nsl1 UTSW 1 190,802,310 (GRCm39) missense probably benign 0.02
R6133:Nsl1 UTSW 1 190,803,403 (GRCm39) missense probably damaging 0.99
R6817:Nsl1 UTSW 1 190,795,471 (GRCm39) critical splice donor site probably null
R7755:Nsl1 UTSW 1 190,795,380 (GRCm39) missense probably benign 0.21
R8506:Nsl1 UTSW 1 190,808,832 (GRCm39) missense unknown
R8710:Nsl1 UTSW 1 190,795,420 (GRCm39) missense probably benign 0.00
R8731:Nsl1 UTSW 1 190,814,609 (GRCm39) missense probably damaging 1.00
Z1177:Nsl1 UTSW 1 190,795,428 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGCAGATACATTTTAGGCTTGAATGG -3'
(R):5'- ATCAAATGGACTGGGGAGTTCC -3'

Sequencing Primer
(F):5'- GCTTGAATGGAAATGATTGAGGTTAC -3'
(R):5'- CGGGAGGACAGGATATACTCTACCC -3'
Posted On 2018-06-22